Autism Spectrum Disorder: An Overview and Update Brandon Rennie, - - PowerPoint PPT Presentation

Autism Spectrum Disorder: An Overview and Update

Brandon Rennie, PhD Autism and Other Developmental Disabilities Division Center for Development and Disability University of New Mexico Department of Pediatrics DATE, 2016 Acknowledgements: Courtney Burnette, PHD, Sylvia Acosta, PhD, Maryann Trott, MA, BCBA

Introduction to Autism Spectrum Disorder (ASD)

• What is ASD?
• A complex neurodevelopmental condition
• Neurologically based- underlying genetic and neurobiological origins
• Developmental- evident early in life and impacts social development
• Lifelong- no known cure
• Core characteristics
• Impairments in social interaction and social communication
• Presence of restricted behavior, interests and activities
• Wide variations in presentation

DSM-5 Diagnostic Criteria

• Deficits in social communication and social interaction (3)
• Social approach/interaction
• Nonverbal communication
• Relationships
• Presence of restricted, repetitive patterns of behavior, interests, or

activities (2)

• Stereotyped or repetitive motor movements, objects, speech
• Routines
• Restricted interests
• Sensory*

From Rain Man To Sheldon Cooper- Autism in the Media

1910 Bleuler

• First use of the word autistic
• From “autos”, Greek word meaning “self”

1943 Leo Kanner

1944 Hans Asperger

1975 1:5000 1985 1:2500 1995 1:500

“When my brother trained at Children's Hospital at Harvard in the 1970s, they admitted a child with autism, and the head of the hospital brought all of the residents through to see. He said, 'You've got to see this case; you'll never see it again.'"

• -Thomas Insel, director of National Institute of Mental Health

May 7, 2006, Time Magazine

1975 1:5000 1985 1:2500 1995 1:500

Autism and Developmental Disabilities Monitoring (ADDM) Network

• Part of Centers for Disease Control (CDC)
• Monitors the number of 4- and 8-year-old

children with ASDs living throughout the United States at 11 sites

• Systematic Record Review of health and

educational records (2010)

1:42 boys 1:189 girls 5:1 ratio 1:175 Alabama 1:45 New Jersey IQ scores 46% >85 23% 71-85 31% < 70 1:63 White 1:81 Black 1: 93 Hispanic

Autism a and D Developmental D Disabilities Monitoring ( (ADDM DDM) N Network rk

44% evaluated by 3 years

• ld for dev.

concerns On Average, diagnosed after 4 years old

Relevance of Prevalence

• Federal
• Service Providers (healthcare, school systems)
• Research
• Policymakers
• http://www.cdc.gov/ncbddd/autism/addm.html

Two most common questions

• 1. Why is the prevalence increasing?
• 2. What causes autism?

Why is the Prevalence Increasing?

• Broadening of diagnostic criteria
• Diagnostic substitution
• Public awareness
• Unknown

What causes ASD?

Most cases involve a complex and variable combination of genetic risk and environmental factors that influence early brain development

Risk Factors

• Genetic disorders
• Tuberous Sclerosis
• DiGeorge Syndrome
• Fragile X
• Down Syndrome
• And others…
• Sibling with ASD
• Other environmental factors
• Wendy Chung TED Talk

TED Talk

• Wendy Chung TED talk
• http://www.ted.com/talks/wendy_chung_autism_what_we_know_

and_what_we_don_t_know_yet

DSM-5

Why was it changed?

• APA intends the DSM to reflect most current research and practice
• Last revision – 2000
• Confusion and inconsistent application of previous PDD diagnoses

Why was it changed?

• Improve sensitivity and specificity
• Provide more accurate and descriptive information (Specifiers)
• Co-existing conditions and genetic or medical diagnoses
• Severity level (based on level of supports)
• Intellectual functioning
• Language level

Changes

Pervasive Developmental Disorder 3 Diagnoses: Autistic Disorder Asperger’s Disorder PDD-NOS 3 “categories” of symptoms Social Interaction (2/4) Communication RRB Autism Spectrum Disorder 1 Diagnosis Autism Spectrum Disorder 2 “categories” of symptoms Social Communication (3/3) RRB (2/4)

Changes

Pervasive Developmental Disorder No indication about sensory differences Language delay criteria Included Childhood Disintegrative Disorder and Retts Disorder Autism Spectrum Disorder Added hyper- or hypo- reactivity to sensory input Delay in language removed Removed Childhood Disintegrative Disorder and Retts Disorder

Changes

Pervasive Developmental Disorder Must be present before age 3 years Autism Spectrum Disorder Present in the early developmental period but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life

DSM-5 Social Communication

Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history:

• Social-emotional reciprocity
• Nonverbal communication behaviors
• Developing, maintaining and understanding relationships

DSM-5 Restricted and Repetitive Behaviors

Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following:

• Stereotyped or repetitive motor movements, use of objects, or speech
• Insistence on sameness, inflexible adherence to routines, or ritualized patterns
• f verbal or nonverbal behavior
• Highly restricted, fixated interests that are abnormal in intensity or focus
• Hyper- or hyporeactivity to sensory input or unusual interest in sensory

aspects of the environment

Additional DSM-5 Criteria

• Symptoms must be present in the early developmental period

(might not manifest or be noted until later)

• Symptoms cause significant impairment in social, occupational, or
• ther important areas of current functioning
• Disturbances are not better explained by intellectual disability or

global developmental delay (note comorbid diagnosis)

Diagnostic Specifiers

DSM-5 299.0 Autism Spectrum Disorder

• Level of Support required (i.e., Severity)
• With or Without intellectual impairment
• With or Without language impairment
• Associated with known medical or genetic condition or environmental

factor

• Associated with another neurodevelopmental, mental or behavioral

disorder (e.g., ADHD)

• With catatonia

Severity Level: Social-Communication

Level 1: requiring support Level 2: requiring substantial support Level 3: requiring very substantial support

• Without supports, deficits in social

communication cause noticeable impairments; e.g., atypical or unsuccessful responses to social overtures

• Marked deficits in verbal and nonverbal social

communication, apparent even with supports

• Limited initiation and minimal response to

social overtures

Severity Level: Restricted, repetitive behaviors

• Level 1: requiring support
• Level 2: requiring substantial

support

• Level 3: requiring very

substantial support

• Causes significant interference with

functioning in one or more contexts

• Appear frequently and interfere

with functioning across a variety of contexts

• Extreme difficulty with change,

markedly interfere with functioning in all spheres

Additional Changes

• Can now have comorbid diagnoses:
• Language Disorders
• Global Developmental Delay (under 5 years old)
• Attention-Deficit/Hyperactivity Disorder
• Anxiety and Mood Disorders
• Medical Comorbidities

Comorbidity

Genetic conditions

Fragile X Tuberous sclerosis Tourette syndrome

Intellectual Disability

ASD

Anxiety

Medical Conditions

Seizure disorders Gastrointestinal disorders Feeding and eating problems Sleep disorders

ADHD

Language Disorder

Mood Disorder

Sample Diagnosis 1

• DSM-IV-TR
• Axis I:

Autistic Disorder (299.00)

• Axis II:

Intellectual Disability, Mild (317.0)

• Axis III:

Seizure Disorder, NOS (780.39)

• Axis IV:

school difficulties, sibling conflict

• Axis V:

GAF: 55

Sample Diagnosis 1

DSM-5 Autism Spectrum Disorder associated with Seizure Disorder:

• Currently requiring substantial supports for deficits in social communication and support

for restricted, repetitive behaviors.

• With accompanying intellectual impairment (Intellectual Disability, Mild; 317.0)
• With accompanying language impairment (phrase speech, delays in receptive and

expressive communication

• Not associated with any known genetic cause (appointment pending)

No more Asperger’s?

• Asperger’s Disorder is no longer a distinct diagnostic category
• “…identity that represents this an individuals specific strengths and

challenges”

• New diagnostic structure allows for descriptive information to

convey these strengths and challenges

• More individualized for everyone receiving a diagnosis

How does this affect people with ASD and their families?

Will we need to get a new evaluation for diagnosis?

• A person with a well-

established diagnosis of Autistic Disorder, Asperger’s

• r PDD-NOS does not need a

new evaluation – they should be given a diagnosis of Autism Spectrum Disorder

Break

Best Practice in ASD Assessment

Best Practice Guidelines for ASD Assessment

• Professional Practice Organizations
• American Academy of Child and Adolescent Psychiatry (2014)
• American Academy of Neurology and the Child Neurology Society (2000)
• American Psychiatric Association
• American Psychological Association
• American Academy of Pediatrics
• State Agency Guidelines
• California (2002)
• Connecticut (2013)
• Missouri (2010)
• New Mexico (2004)

AACAP Assessment Recommendations

• 1. Developmental and psychiatric assessment should include

questions about ASD symptomology

• 2. Thorough evaluation should be conducted if screening is positive
• 3. Clinicians should coordinate appropriate multidisciplinary

assessment of children with ASD

State Agency Recommendations for Diagnostic Evaluation Components

• All suggest the following:
• The importance of early diagnosis, screening, and specialists in ASD as well

as the ability to differentiate ASD from other diagnoses as well as a comprehensive evaluation

• Components of a comprehensive evaluation
• Parent/caregiver/individual Interview
• Review of records
• Medical history and evaluation
• Direct assessment and observation of the individual
• Assessment of the core ASD criteria
• Feedback

Models of Assessment

• Single practitioner assessment
• Multidisciplinary assessment
• Interdisciplinary assessment
• Team members may include:

Assessment of ASD Core Deficit Areas (DSM-5 criteria)

• Direct behavior observation in clinic, school, or home
• Social interaction and communication through interview, play, etc.
• Repetitive, restricted, and stereotyped patterns of behavior
• Sensory
• Cognitive and Adaptive Measures
• Speech, Language and Communication
• Social competence and Functioning necessary for a differential

diagnosis

Autism Diagnostic Observation Schedule, Second Edition (ADOS-2)

A semi-structured assessment tool designed to evaluate ASD related difficulties language and communication social reciprocity play and imagination repetitive behaviors Requires specialized training to administer and score Scoring system based on skills

• bserved during the ADOS

ADOS-2

• Five modules for individuals of all ages

and ability levels

• Toddler Module-12 to 30 months,

inconsistent phrase speech

• Module 1- no speech to single words,

activities such as bubble play and imitation

• Module 2- phrase speech, activities such

as pretend play, story telling from a book

• Module 3- child with fluent speech, make

believe play, questions about emotions and social relationships

• Module 4- adolescent or adult with fluent

speech, questions about responsibility, goals, relationships

Family Centered/Cultural Competence

• A family-centered approach is suggested for all parts of the

evaluation (e.g., person first language)

• Understand relevant cultural factors
• Feedback to family- verbal and written in a timely manner

In Sum…

• ASD diagnosis is complex and requires assessment of a variety of

domains

• Best Practice is:
• An interdisciplinary assessment with “specialists” in development and ASD
• The use of ASD-specific measures
• Comprehensive information gathering and evaluation of the individuals

functioning

• Formulation of conclusion together
• Family-centered and culturally sensitive

ASD in Young Children

ASD in Young Children

• Distinct signs of ASD may begin to appear in the first year of

life.

• become more pronounced by 18 to 24 months
• Reliable diagnoses with ASD between 2nd and 3rd birthdays
• Parents may notice signs and symptoms before age 2 years

and intervention can take place before that formal diagnosis.

Social –Communication happens at a very young age

• In autism, we see these behaviors less often

Sharing enjoyment Imitating

Social –Communication happens at a very young age

In autism, we see these behaviors less often

Sharing enjoyment Imitating Social Games Showing Off Imitation

Video of Early Signs

• Kennedy Krieger Institute Center for Autism and Related Disorders
• https://www.youtube.com/watch?v=YtvP5A5OHpU
• Start at 4:23

Developmental Screening AND Monitoring

• Screening alone is insufficient
• 1 in 5 children with a disability will

not be identified through a single developmental screening

• American Academy of Pediatrics

(AAP) recommends that infants receive 7 well-child visits, during which ongoing screening and monitoring can occur and increase detection of disabilities

• 2007 The American Academy of

Pediatrics recommends specific screening for ASD twice before two (18 and 24 months)

Developmental Screening AND Monitoring

• Specific ASD Screening
• Developmental screening and

monitoring are the best pathway to identify children with ASD early in life

• Couple with ASD-specific

screening.

• Recent Research in 6 states
• 60% pediatricians screened for

ASD at 18 months

• 50% pediatricians screened at 24

months (Arunyanart, et al., 2012)

Developmental Screening and Monitoring

• There is no time for the “Wait and See”

approach to developmental concerns

• There is no harm done in screening and

referral

• Early identification is key to access to

intervention

• 2004 Learn the Signs Act Early campaign

by the CDC

www.cdc.gov/actearly

Early Identification to Improve Developmental Outcomes

• Early identification  early intervention
• Fully understanding a child’s presentation  the

right kind of early intervention

• The right kind of early intervention  the best

possible outcomes

Website for Part C Information: http://idea.ed.gov/part-c

Cumulative Effects of Deficits

• Core deficits of autism lead to a reduced capacity to learn

from the environment

• secondary consequences (e.g., delays in adaptive behavior, academic skills)
• Not all the functional deficits of autism are primary

deficits of the disorder.

Cumulative Effects of Deficits

• Intervention is thought to work by
• improving core deficits through direct teaching
• provide an enriched, intensive learning environment that leads to change in

trajectory

Sibling Research

• Previous estimates suggested recurrence risk of 3-10%
• Larger, prospective, longitudinal, multisite (12) study of

664 siblings (55% male)

• Followed until 36 months of age

Recurrence Risk for Autism Spectrum Disorders (Ozonoff et al., 2011)

• Results suggested recurrence risk of 18.7%
• Even higher with two siblings with ASD (32.2%)

Recurrence Risk for Autism Spectrum Disorders (Ozonoff et al., 2011)

Free Developmental Assessments for Siblings, Kennedy Krieger Institute

Sibling Research

• New Study of High Risk siblings (507) who did not

receive ASD diagnosis

• 20% of High Risk siblings, the majority of them male

demonstrated higher levels of ASD symptoms and/or some developmental delays

Beyond Autism: A BSRC Study of High-Risk Children at Three Years

• f Age (Messinger et al., 2013)

Sibling Research

Early Markers of ASD in Siblings

Replicated risk markers include:

• Impairments in social communication
• reduced social orienting/response to name
• reduced joint attention behaviors
• Repetitive behaviors involving body movements and/or

atypical use of objects

• intense visual inspection
• repetitive actions such as tapping and spinning
• Atypical emotional regulation
• reduced positive affect
• more variably, increased negative affect

• Atypical developmental trajectories:
• progressive reduction in age-appropriate social

behaviors, as well as evidence of plateauing (slowed acquisition) of language and non-verbal cognitive skills.

• Differentiating children with ASD from comparison

groups starting at 12–14 months.

• However, there remains considerable heterogeneity at an

individual level

• Need for ongoing screening and monitoring over time

Not just a one-time event

Early Markers of ASD in Siblings

Diagnostic Stability in Siblings

• Evaluations of 418 later-born siblings of children with

ASD at 18, 24, and 36 months of age

• Clinical diagnosis of ASD or Not ASD was made at each age
• Stability of an ASD diagnosis at:
• 18 months was 93%
• 24 months was 82%
• There were relatively few children diagnosed with ASD at

18 or 24 months whose diagnosis was not confirmed at 36 months.

Ozonoff, et al., 2015

Diagnostic Stability in Siblings

• However, many children with ASD outcomes at 36 months

who had not yet been diagnosed at

• 18 months (63%)
• 24 months (41%)

Conclusions:

• Stability of ASD diagnosis in this familial-risk sample was

high at both 18 and 24 months of age and comparable with previous data from clinic- and community- ascertained samples.

• However, almost half of the children with ASD outcomes

were not identified as being on the spectrum at 24 months and did not receive an ASD diagnosis until 36 months.

Diagnostic Stability in Siblings

• Longitudinal follow-up is critical for children with early

signs of social-communication difficulties, even if they do not meet diagnostic criteria at initial assessment

• A public health implication of these data is that screening

for ASD may need to be repeated multiple times in the first years of life

• These data also suggest that there is a period of early

development in which ASD features unfold and emerge but have not yet reached levels supportive of a diagnosis.

Developmental Trajectories

Break

Adult Assessment and Issues

Adult Assessment

• Video of adult - church bell ringing

Adult Issues

• Lack of capacity of systems to meet needs
• Interagency Autism Coordinating Committee –
• Future of Adults with ASD is one of seven strategic areas of focus and

funding

• Generally low levels of vocational and social engagement
• Outcomes based on different measures

Adult Issues

• Engage stakeholders in ASD research (Pellicano, 2014; Gotham

2015)

• Directly ascertain their views on autism research priorities
• Both researchers and individuals prioritized research to develop programs

for life skills enhancement and “practical areas of life”

• Additionally, stakeholders place high priority on:
• Improve public services, health care access and recognition of physical and mental

health comorbiditites

• Building an understanding of the place of people with ASD in society and studying

comorbidity risk

Adult Issues (Gotham 2015)

• Self-report ASD adults:
• Slight majority lived independently or

with spouse/partner

• Tend to be underemployed (25% had

full time employment)

• Experience workplace discrimination
• Find it too challenging to hold a job
• Have two or more physical and/or

mental health conditions

• 75% with anxiety depression, physical

health also elevated

• Legally represented adults with ASD
• more consistent with general ASD
• utcome studies
• low rates of employment - 10% held

paid employment for more than 10 hrs per week

• low rates of independent living - 90%

lived with families or paid caregivers with state or federal assistance

• Unknown what they do when not

working or in programming – precursor to physical and mental health problems.

• Similar to self-report group, majority

with physical and mental health comorbidities

Adult Issues

Croen, et al., 2015 1507 adults with ASD diagnoses 15,070 controls without ASD diagnoses

Adaptive Behaviors Klinger, et al., (IMFAR 2015)

• Sample of adults, adaptive behavior was the single best correlate of

adult outcome

• Adaptive behavior in childhood was an equally strong predictor of
• utcome
• Above and beyond symptom severity and intellectual/language

functioning.

• Interventions targeting adaptive behaviors are overlooked, but the

findings suggest their importance across a lifespan.

Vocational Activities

Engagement in Vocational Activities Promotes Behavioral Development for Adults with Autism Spectrum Disorders (Taylor and Mailick, 2014)

• greater vocational independence leads to subsequent

improvements in maladaptive behaviors and activities of daily living in adulthood

Treating Co-Morbid Disorders

• Cognitive Behavioral Therapy (CBT)
• appropriate for individuals without cognitive disabilities, but social

difficulties may impact traditional treatment

• Incorporate Social Skills training component
• Facing your Fears
• Strategies for ASD and Anxiety
• Use visuals, use simple language (limit metaphors), include parents, include

special interests (Moree and Davis, 2010)

Intervention for ASD

Evidence-Based Intervention and Applied Behavioral Analysis (ABA)

• Types of Intervention
• Behavioral
• Educational
• Medical*
• Advances in health coverage for

treatments based on Applied Behavioral Analysis (ABA)

*See the AACAP Practice Parameters for the Assessment and Treatment of Children and Adolescents with ASD for a review of pharmacotherapy offered to target symptoms or comorbid conditions (Vokmar et. al, 2014)

What does early intervention look like?

• Starts at the earliest age possible
• Intensive- 20-45 hours per week
• Parents actively involved in treatment
• Highly trained staff
• Collecting data, ongoing assessment, planful teaching
• Focus on core deficit areas of ASD
• Video
• http://www.youtube.com/watch?v=V-c50HNnPg0

National Standards Project Phase 2 (NSP2)

Established Treatments

1. Behavioral Interventions 2. Cognitive Behavioral Intervention Package 3. Comprehensive Behavioral Treatment for Young Children 4. Language Training (Production) 5. Modeling 6. Naturalistic Teaching Strategies 7. Parent Training 8. Peer Training Package 9. Pivotal Response Training 10. Schedules 11. Scripting 12. Self-Management 13. Social Skills Package 14. Story-based Intervention

• http://may.convio.net/site/MessageViewer?dlv_i

d=11521&em_id=3041.0

National Standards Project 2

For children to young adults under 22 years

• Established (14)
• Emerging (18)
• Augmentative and Alternative

Communication Devices

• Developmental Relationship-based

Treatment

• Exercise
• Exposure Package
• Functional Communication Training
• Imitation-based Intervention
• Initiation Training
• Language Training (Production &

Understanding)

• Massage Therapy
• Multi-component Package
• Music Therapy
• Picture Exchange Communication System
• Reductive Package
• Sign Instruction
• Social Communication Intervention
• Structured Teaching
• Technology-based Intervention
• Theory of Mind Training
• Unestablished (13)
• Animal-assisted Therapy
• Auditory Integration Training
• Concept Mapping
• DIR/Floor Time
• Facilitation Communication
• Gluten-free/Casein-free diet
• Movement-based Intervention
• SENSE Theatre Intervention
• Sensory Intervention Package
• Shock Therapy
• Social Behavioral Learning Strategy
• Social Cognition Intervention
• Social Thinking Intervention

National Standards Project 2

• For adults 22 years and older
• Established (1)
• Behavioral Interventions
• Emerging (1)
• Vocational Training Package
• Unestablished (4)
• Cognitive Behavioral Intervention Package
• Modeling
• Music Therapy
• Sensory Integration Package

National Professional Development Center on Autism Spectrum Disorder (2014)

• Antecedent-Based Interventions
• Cognitive Behavioral Intervention
• Differential Reinforcement
• Discrete Trial Training
• Exercise
• Extinction
• Functional Behavior Assessment
• Functional Communication Training
• Modeling
• Naturalistic Intervention
• Parent-Implemented Intervention
• Peer-Mediated Instruction and Intervention
• Picture Exchange Communication System (PECS)
• Pivotal Response Training
• Prompting
• Reinforcement
• Response Interruption/Redirection
• Scripting
• Self-Management
• Social Narratives
• Social Skills Training
• Structured Play Group
• Task Analysis
• Technology-aided Instruction and Intervention
• Time Delay
• Video Modeling
• Visual Support

Treatment Examples

• Autism Speaks Video Glossary

https://www.autismspeaks.org/what-autism/video-glossary Discrete Trial Training (DTT) Pivotal Response Training (PRT) Visual Supports Early Start Denver Model

Family and Economic Impact

Economic Impact

• It is estimated to cost at least $17,000 more per year to care for a

child with ASD compared to a child without ASD

• Costs include health care, education, ASD-related therapy, family-

coordinated services, and caregiver time

• Taken together, it is estimated that total societal costs of caring for

children with ASD were over $11.5 billion in 2011

Family Impact

• Parents of children with ASD have reported high levels of stress
• Access to needed services and quality of care compared to parents of

children with other developmental disabilities or mental health conditions.

• Some parents also report having to stop work to care for their child

with ASD

• Mothers who maintain employment end up working about 7 hours less per

week and

• Earn 56% less than mothers of children with no major health issues

Working with Parents of Individuals with ASD

• Increased stress level
• Often related to “problem behaviors” in ASD
• Behavioral parent training- using the principals of ABA
• Support group
• Optimistic Parenting
• Encourage optimistic views of the child
• Explore more positive views in parent’s ability to make changes
• CBT strategies applied to parenting beliefs
• Mindfulness training

ASD in New Mexico

• Barriers
• Prevalence rates unknown
• Access to assessment and treatment
• Adult issues including vocational, behavioral, and mental health services
• High staff turnover
• Improvements
• Increasing awareness
• Education and training

Resources

Where can families go for an evaluation?

Need MORE for ADULTS Center for Development and Disability

Early Childhood Evaluation Program (ECEP) Ages 0 -3 years Autism Spectrum Evaluation Clinic Ages 3 years and up www.cdd.unm.edu

Family Infant Toddler Program, NM DOH

http://archive.nmhealth.org/ddsd/nmfit/Providers/FITPrgrmPrvdr s.htm

Albuquerque Public Schools Child Find

http://www.aps.edu/aps/SpecialEd/childfndprvt.html

Helpful links

• MORE NEEDED
• ASD Video Glossary:

http://autismspeaks.player.abacast.com/asdvideogloss ary-0.1/autismspeaks/login

• Autism Speaks – http://autismspeaks.org
• Centers for Disease Control and Prevention, Learn the
• Signs. Act Early:

http://www.cdc.gov/ncbddd/actearly/index.html

• American Academy of Pediatrics Policy Page:

http://pediatrics.aappublications.org/site/aappolicy/in dex.xhtml